MCID: PYR016
MIFTS: 30

Pyridoxine Deficiency

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Pyridoxine Deficiency

MalaCards integrated aliases for Pyridoxine Deficiency:

Name: Pyridoxine Deficiency 52 54 71 32
Vitamin Deficiency, B6 52
Vitamin B 6 Deficiency 71
Vitamin B6 Deficiency 52

Classifications:



External Ids:

ICD10 32 E53.1
UMLS 71 C0936215 C1527330

Summaries for Pyridoxine Deficiency

MalaCards based summary : Pyridoxine Deficiency, also known as vitamin deficiency, b6, is related to pyridoxine deficiency anemia and pyridoxamine 5-prime-phosphate oxidase deficiency. An important gene associated with Pyridoxine Deficiency is GSR (Glutathione-Disulfide Reductase), and among its related pathways/superpathways is Folate Metabolism. The drugs Folic acid and Pyridoxine have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and heart.

Wikipedia : 74 Vitamin B6 refers to a group of chemically similar compounds which can be interconverted in biological... more...

Related Diseases for Pyridoxine Deficiency

Diseases related to Pyridoxine Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 pyridoxine deficiency anemia 12.6
2 pyridoxamine 5-prime-phosphate oxidase deficiency 11.4
3 deficiency anemia 10.3
4 homocysteinemia 10.2
5 neuropathy 10.2
6 carpal tunnel syndrome 10.2
7 polyneuropathy 10.2
8 uremia 10.2
9 visual epilepsy 10.1
10 hypothyroidism 10.1
11 seizure disorder 10.1
12 iron metabolism disease 10.1
13 skin disease 10.1
14 pellagra 10.1
15 sideroblastic anemia 10.1
16 riboflavin deficiency 10.1
17 sarcoma 10.1
18 porphyria 10.1
19 spindle cell sarcoma 10.1
20 peripheral nervous system disease 10.1
21 fatty liver disease 10.1
22 encephalopathy 10.1
23 alcohol dependence 10.0
24 beriberi 10.0
25 status epilepticus 10.0
26 epilepsy 10.0
27 arteriosclerosis 10.0
28 liver disease 10.0
29 lymphosarcoma 10.0
30 audiogenic seizures 10.0
31 bladder cancer 9.9
32 cleft palate, isolated 9.9
33 acrodermatitis enteropathica, zinc-deficiency type 9.9
34 anemia, hypochromic microcytic, with iron overload 1 9.9
35 monosodium glutamate sensitivity 9.9
36 hemochromatosis, type 1 9.9
37 hyperprolinemia, type ii 9.9
38 myelofibrosis 9.9
39 proteasome-associated autoinflammatory syndrome 1 9.9
40 sickle cell anemia 9.9
41 body mass index quantitative trait locus 1 9.9
42 epileptic encephalopathy, early infantile, 6 9.9
43 membranous nephropathy 9.9
44 exanthem 9.9
45 hypochromic microcytic anemia 9.9
46 atrioventricular block 9.9
47 atrial fibrillation 9.9
48 angular cheilitis 9.9
49 omphalocele 9.9
50 hyperprolinemia 9.9

Graphical network of the top 20 diseases related to Pyridoxine Deficiency:



Diseases related to Pyridoxine Deficiency

Symptoms & Phenotypes for Pyridoxine Deficiency

Drugs & Therapeutics for Pyridoxine Deficiency

Drugs for Pyridoxine Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
2
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 65-23-6 1054
3
Methionine Approved, Nutraceutical Phase 2, Phase 3 63-68-3 6137
4 Vitamins Phase 2, Phase 3
5 Nutrients Phase 2, Phase 3
6 Vitamin B Complex Phase 2, Phase 3
7 Trace Elements Phase 2, Phase 3
8 Micronutrients Phase 2, Phase 3
9 Contraceptives, Oral Phase 2, Phase 3
10 Vitamin B9 Phase 2, Phase 3
11 Contraceptives, Oral, Combined Phase 2, Phase 3
12 Vitamin B 6 Phase 2, Phase 3
13 Folate Phase 2, Phase 3
14 Contraceptive Agents Phase 2, Phase 3
15
Serine Investigational, Nutraceutical Phase 2, Phase 3 56-45-1 5951
16
Leucine Investigational, Nutraceutical Phase 2, Phase 3 61-90-5 6106
17
Pyridoxal Experimental, Nutraceutical Phase 2, Phase 3 66-72-8 1050
18
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
19
Phenytoin Approved, Vet_approved Phase 2 57-41-0 1775
20 Neurotransmitter Agents Phase 2
21 Tranquilizing Agents Phase 2
22 Sodium Channel Blockers Phase 2
23 GABA Agents Phase 2
24 Psychotropic Drugs Phase 2
25 Anticonvulsants Phase 2
26 Antimanic Agents Phase 2
27 Central Nervous System Depressants Phase 2
28 Diuretics, Potassium Sparing Phase 2
29
leucovorin Approved 58-05-9 6006 143
30
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
31
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
32
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
33
Cobalamin Experimental 13408-78-1 6857388
34 Hematinics
35 Vitamin B 12
36 Vitamin B12

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vitamin B6 Effects on One-Carbon Metabolism Completed NCT01128244 Phase 2, Phase 3
2 Treatment of Nodding Syndrome - A Randomized Blinded Placebo-Controlled Crossover Trial of Oral Pyridoxine and Conventional Anti-Epileptic Therapy, in Northern Uganda — 2012 Unknown status NCT01730313 Phase 2 Pyridoxine;Sodium Valproate;Phenytoin;Placebo
3 The Vitamin B Status in Type 2 Diabetes (VITA) Study Completed NCT03447275
4 Vitamin B6 Dependence of One-Carbon Metabolism Completed NCT00877812
5 Pilot Study for the Evaluation of the Effectiveness of Natural Versus Synthetic Vitamin B Complexes in Humans. Completed NCT03444155

Search NIH Clinical Center for Pyridoxine Deficiency

Genetic Tests for Pyridoxine Deficiency

Anatomical Context for Pyridoxine Deficiency

MalaCards organs/tissues related to Pyridoxine Deficiency:

40
Liver, Brain, Heart, Kidney, Bone, Testes, Cortex

Publications for Pyridoxine Deficiency

Articles related to Pyridoxine Deficiency:

(show top 50) (show all 413)
# Title Authors PMID Year
1
Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis. 61
31884946 2019
2
[A microcytic sideroblastic anemia successfully treated with B6 vitamin]. 61
31133329 2019
3
Metabolic etiologies in West syndrome. 61
29881795 2018
4
Low Alanine Aminotransferase Levels in the Elderly Population: Frailty, Disability, Sarcopenia, and Reduced Survival. 61
28633440 2018
5
Dietary pyridoxine deficiency reduced growth performance and impaired intestinal immune function associated with TOR and NF-κB signalling of young grass carp (Ctenopharyngodon idella). 61
28951222 2017
6
Pyridoxine Deficiency After Solid Organ Transplant. 61
29187089 2017
7
Nutrients and Neurology. 61
28570331 2017
8
Effects of levodopa/carbidopa intestinal gel versus oral levodopa/carbidopa on B vitamin levels and neuropathy. 61
28523235 2017
9
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. 61
27912044 2016
10
Impact of the Increased Recommended Dosage of Isoniazid on Pyridoxine Levels in Children and Adolescents. 61
26862674 2016
11
Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations. 61
26656780 2016
12
Isoniazid exposure and pyridoxine levels in human immunodeficiency virus associated distal sensory neuropathy. 61
26467583 2015
13
Pyridoxine deficiency in adult patients with status epilepticus. 61
26418265 2015
14
Effects of pyridoxine on growth performance and plasma aminotransferases and homocysteine of white pekin ducks. 61
25358368 2014
15
Revisiting the evidence for neuropathy caused by pyridoxine deficiency and excess. 61
25137514 2014
16
Seizures caused by pyridoxine (vitamin B6) deficiency in adults: A case report and literature review. 61
25343127 2014
17
Biochemical Evaluation of Patients of Alcoholic Liver Disease and Non-alcoholic Liver Disease. 61
24478554 2014
18
Therapeutic approach to epileptic encephalopathies. 61
24571117 2013
19
Transcriptional remodelling in response to changing copper levels in the Wilson and Menkes disease model of Saccharomyces cerevisiae. 61
24056782 2013
20
Vitamin B6: deficiency diseases and methods of analysis. 61
24035968 2013
21
Congenital cataract in a child with pyridoxine-dependent epilepsy. 61
23602455 2013
22
Epilepsy in inborn errors of metabolism. 61
23622201 2013
23
B-vitamin deficiency in patients treated with antiepileptic drugs. 61
22658435 2012
24
Treatment of severe neutropenia with high-dose pyridoxine in a patient with chronic graft versus host disease and squamous cell carcinoma: a case report. 61
21838907 2011
25
Vitamin B6 deficiency: a potential cause of refractory seizures in adults. 61
21378258 2011
26
Partial status epilepticus induced by hypocupremia in a patient with Wilson's disease. 61
20732822 2010
27
Simultaneous chemometric determination of pyridoxine hydrochloride and isoniazid in tablets by multivariate regression methods. 61
20645279 2010
28
The effects of pyridoxine deficiency and supplementation on hematological profiles, lymphocyte function, and hepatic cytochrome P450 in B6C3F1 mice. 61
19637937 2009
29
Epileptic status refractory to conventional treatment caused by vitamin B6 deficiency. 61
19240731 2009
30
Pyridoxine-related metabolite concentrations in normal and Down syndrome amniotic fluid. 61
18417989 2008
31
Optimizing therapy of seizures in patients with renal or hepatic dysfunction. 61
17190918 2006
32
Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats. 61
16151899 2005
33
Confusion associated with isoniazid-induced pyridoxine deficiency. 61
15546832 2004
34
Effect of pyridoxine deficiency on the structural and functional development of hippocampus. 61
15648402 2004
35
Instability of the apo form of aromatic L-amino acid decarboxylase in vivo and in vitro: implications for the involvement of the flexible loop that covers the active site. 61
14999007 2004
36
Electrocardiographic changes due to pyridoxine deficiency. 61
12765460 2003
37
Individual susceptibility to Wernicke-Korsakoff syndrome and alcoholism-induced cognitive deficit: impaired thiamine utilization found in alcoholics and alcohol abusers. 61
12454526 2002
38
Biochemical deficiency of pyridoxine does not affect interleukin-2 production of lymphocytes from patients with Sjögren's syndrome. 61
12428174 2002
39
Methods for measuring sulfur amino acid metabolism. 61
12172474 2002
40
Management of epilepsy in pediatrics and geriatrics. 61
12296546 2002
41
Hyperhomocysteinemia is associated with low plasma pyridoxine levels in children with sickle cell disease. 61
12142786 2002
42
[The pathogenesis of diabetic and hepatic neuropathies]. 61
11778353 2001
43
Vitamin B(6) therapy does not improve hematocrit in hemodialysis patients supplemented with iron and erythropoietin. 61
11287776 2001
44
High-dose pyridoxine as an 'anti-stress' strategy. 61
10859691 2000
45
Fits, pyridoxine, and hyperprolinaemia type II. 61
10685929 2000
46
[Pyridoxine deficiency and dependency]. 61
11031901 2000
47
Hyperoxaluria and urolithiasis in young children: an atypical presentation. 61
10608514 1999
48
The thiamin, riboflavin and pyridoxine status of patients on emergency admission to hospital. 54
10459067 1999
49
Enzymic evaluation of thiamin, riboflavin and pyridoxine status of parturient mothers and their newborn infants in a Mediterranean area of Spain. 61
10048797 1999
50
Vitamins and brain development. 61
10523053 1999

Variations for Pyridoxine Deficiency

Expression for Pyridoxine Deficiency

Search GEO for disease gene expression data for Pyridoxine Deficiency.

Pathways for Pyridoxine Deficiency

Pathways related to Pyridoxine Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.96 SHMT2 GSR

GO Terms for Pyridoxine Deficiency

Cellular components related to Pyridoxine Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.96 SHMT2 GSR
2 mitochondrial matrix GO:0005759 8.62 SHMT2 GSR

Sources for Pyridoxine Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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